ClinGen Allele Registry
Allele Registry
Register
Login
Forgot Login?
Canonical Allele Identifier:
PA2827677584
Gene: JUP
HGNC
NCBI
Linked Data
ClinVar Variation Id:
201814
ClinVar RCV Id:
RCV000183488
RCV000688743
RCV001193379
RCV002345643
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001339702.1:p.Val190Met
CA308476
NM_001352773.2:c.568G>A